GHR Gene Growth Hormone Insensitivity Partial NGS Genetic DNA Test
Comprehensive Genetic Testing for Growth Hormone Resistance Disorders
The GHR Gene Growth Hormone Insensitivity Partial NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with partial growth hormone insensitivity syndrome (GHIS). This sophisticated genetic analysis utilizes next-generation sequencing technology to examine the growth hormone receptor (GHR) gene, providing critical insights into the molecular basis of growth disorders that affect children and adults worldwide.
What This Advanced Genetic Test Measures
This comprehensive genetic test specifically targets the GHR gene located on chromosome 5p13-p12, which encodes the growth hormone receptor protein essential for normal growth and development. The test detects:
- Point mutations affecting GHR gene function
- Partial deletions and insertions in the receptor coding regions
- Genetic variants that impair growth hormone binding or signaling
- Mutations leading to reduced receptor density or impaired intracellular signaling
- Specific genetic markers associated with partial rather than complete insensitivity
Clinical Indications: Who Should Consider This Test
This genetic test is particularly valuable for individuals presenting with:
- Unexplained short stature despite normal or elevated growth hormone levels
- Family history of growth hormone resistance disorders
- Children with growth failure unresponsive to growth hormone therapy
- Clinical features suggestive of Laron syndrome or related conditions
- Dysmorphic facial features including prominent forehead and depressed nasal bridge
- Delayed bone age and pubertal development
- High-pitched voice and sparse hair growth
- Metabolic abnormalities including hypoglycemia and obesity
Significant Benefits of Genetic Testing
Undergoing the GHR Gene Growth Hormone Insensitivity Partial NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Differentiates between growth hormone deficiency and insensitivity syndromes
- Personalized Treatment: Guides appropriate therapeutic interventions including IGF-1 therapy
- Genetic Counseling: Enables informed family planning and recurrence risk assessment
- Prognostic Information: Provides insights into expected growth patterns and adult height potential
- Early Intervention: Facilitates timely management to optimize growth outcomes
- Research Contribution: Advances understanding of growth hormone receptor biology
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and pediatric genetic specialists. Results typically fall into these categories:
- Pathogenic Variants: Identified mutations confirm the diagnosis of partial growth hormone insensitivity
- Likely Pathogenic Variants: Strongly suggestive of disease causation requiring clinical correlation
- Variants of Uncertain Significance: Genetic changes with unclear clinical impact requiring further evaluation
- Benign Variants: Common genetic variations not associated with disease
- Negative Results: No significant mutations detected, suggesting alternative diagnoses
Our genetic counseling team will provide comprehensive explanations of your results, discuss implications for family members, and outline appropriate next steps for medical management.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| GHR Gene Growth Hormone Insensitivity Partial NGS Genetic DNA Test – Discount Price | $500 |
| GHR Gene Growth Hormone Insensitivity Partial NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many other cities. Our network of certified collection centers ensures accessible testing for patients nationwide.
Take the Next Step Toward Genetic Clarity
If you or your child are experiencing symptoms suggestive of growth hormone insensitivity, don’t delay in seeking definitive genetic answers. Our specialized team of pediatric geneticists and certified genetic counselors are ready to provide comprehensive evaluation and support throughout your testing journey.
Call us today at +1(267) 388-9828 to schedule your genetic consultation or book your GHR Gene Growth Hormone Insensitivity Partial NGS Genetic DNA Test. Early genetic diagnosis can make a significant difference in treatment outcomes and quality of life for individuals with growth hormone resistance disorders.
With a turnaround time of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or one drop of blood on FTA card, we make genetic testing convenient and accessible. Take control of your genetic health today and unlock the answers you need for informed medical decision-making.
